[PAGID] PAGID posting

Anita Gewurz agewurz at rush.edu
Fri Apr 10 15:44:07 EDT 2009


Dear Paige,

We had a patient with Bloom syndrome (OMIM #210900) who presented
with misdiagnosed CVID and IVIG therapy for low Igs. The subsequent
clinical course included laryngoesophagitis followed by oropharyngeal
squamous cell cancer, myelodysplastic syndrome and death from
nosocomial osteomyelitis. The DNA helicase BLM gene mutation
disrupts T, B and NK development and function. I think Bloom
syndrome could be included in your patient's DDx.

Sincerely,

Anita Gewurz MD
Section of Allergy/Immunology
Department of
Immunology/Microbiology
Rush University Medical Center
1725 W Harrison - 117
Chicago IL 60612
TEL (312) 942-6296
FAX (312) 563-2201
EMAIL agewurz at rush.edu


On Apr 10, 2009, at 10:25 AM, Paige wickner wrote:


> Hi - I wanted to post the attached case to the list. Thank you! I

> havent submitted a case before- so is this how it works?

> Thank you!

> Paige Wickner

> Allergy/Immunology Fellow

> Yale New Haven Hospital<case_for_PAGID.doc>


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